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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for NLRP7 |
 Gene summary |
| Gene information | Gene symbol | NLRP7 | Gene ID | 199713 |
| Gene name | NLR family pyrin domain containing 7 | |
| Synonyms | CLR19.4|HYDM|NALP7|NOD12|PAN7|PYPAF3 | |
| Cytomap | 19q13.42 | |
| Type of gene | protein-coding | |
| Description | NACHT, LRR and PYD domains-containing protein 7NACHT, LRR and PYD containing protein 7NACHT, leucine rich repeat and PYD containing 7PYRIN-containing Apaf1-like protein 3nucleotide-binding oligomerization domain protein 12nucleotide-binding oligomeri | |
| Modification date | 20180527 | |
| UniProtAcc | Q8WX94 | |
| Context | PubMed: NLRP7 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NLRP7 | GO:0010955 | negative regulation of protein processing | 15817483 |
| NLRP7 | GO:1905246 | negative regulation of aspartic-type peptidase activity | 15817483 |
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Exon skipping events across known transcript of Ensembl for NLRP7 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for NLRP7 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NLRP7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322343 | 19 | 55435020:55435240:55438972:55439106:55441866:55442034 | 55438972:55439106 | ENSG00000167634.8 | ENST00000586379.1 |
| exon_skip_322344 | 19 | 55435020:55435240:55438972:55439143:55441866:55442034 | 55438972:55439143 | ENSG00000167634.8 | ENST00000446217.1,ENST00000588756.1,ENST00000328092.5,ENST00000592784.1,ENST00000448121.2 |
| exon_skip_322346 | 19 | 55435020:55435240:55441866:55442034:55444936:55445107 | 55441866:55442034 | ENSG00000167634.8 | ENST00000590030.1,ENST00000340844.2 |
| exon_skip_322347 | 19 | 55438972:55439143:55441866:55442034:55444936:55445107 | 55441866:55442034 | ENSG00000167634.8 | ENST00000446217.1,ENST00000588756.1,ENST00000328092.5,ENST00000592784.1,ENST00000448121.2 |
| exon_skip_322348 | 19 | 55441866:55442034:55444936:55445107:55445856:55446027 | 55444936:55445107 | ENSG00000167634.8 | ENST00000590030.1,ENST00000446217.1,ENST00000588756.1,ENST00000586379.1,ENST00000328092.5,ENST00000592784.1,ENST00000340844.2,ENST00000448121.2 |
| exon_skip_322349 | 19 | 55449411:55449609:55450255:55451834:55452298:55452373 | 55450255:55451834 | ENSG00000167634.8 | ENST00000590030.1,ENST00000446217.1,ENST00000588756.1,ENST00000586379.1,ENST00000592784.1,ENST00000340844.2 |
| exon_skip_322350 | 19 | 55450255:55451834:55452298:55452373:55452802:55453118 | 55452298:55452373 | ENSG00000167634.8 | ENST00000590030.1,ENST00000446217.1,ENST00000588756.1,ENST00000586379.1,ENST00000328092.5,ENST00000592784.1,ENST00000340844.2,ENST00000448121.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NLRP7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322343 | 19 | 55435020:55435240:55438972:55439106:55441866:55442034 | 55438972:55439106 | ENSG00000167634.8 | ENST00000586379.1 |
| exon_skip_322344 | 19 | 55435020:55435240:55438972:55439143:55441866:55442034 | 55438972:55439143 | ENSG00000167634.8 | ENST00000448121.2,ENST00000328092.5,ENST00000588756.1,ENST00000446217.1,ENST00000592784.1 |
| exon_skip_322349 | 19 | 55449411:55449609:55450255:55451834:55452298:55452373 | 55450255:55451834 | ENSG00000167634.8 | ENST00000340844.2,ENST00000590030.1,ENST00000588756.1,ENST00000446217.1,ENST00000586379.1,ENST00000592784.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NLRP7 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for NLRP7 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for NLRP7 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-D5-6529-01 | exon_skip_322349 | 55450256 | 55451834 | 55450407 | 55450407 | Frame_Shift_Del | T | - | p.I594fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_322349 | 55450256 | 55451834 | 55451011 | 55451011 | Frame_Shift_Del | C | - | p.G420fs |
| COAD | TCGA-G4-6588-01 | exon_skip_322349 | 55450256 | 55451834 | 55451046 | 55451046 | Frame_Shift_Del | C | - | p.E381fs |
| STAD | TCGA-D7-A4YY-01 | exon_skip_322349 | 55450256 | 55451834 | 55451098 | 55451098 | Frame_Shift_Del | G | - | p.A364fs |
| HNSC | TCGA-D6-A74Q-01 | exon_skip_322349 | 55450256 | 55451834 | 55451373 | 55451373 | Frame_Shift_Del | C | - | p.D272fs |
| LUAD | TCGA-17-Z010-01 | exon_skip_322349 | 55450256 | 55451834 | 55451547 | 55451547 | Frame_Shift_Del | C | - | p.E214fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_322349 | 55450256 | 55451834 | 55451591 | 55451591 | Frame_Shift_Del | T | - | p.N227fs |
| KIRC | TCGA-B8-4154-01 | exon_skip_322349 | 55450256 | 55451834 | 55451609 | 55451609 | Frame_Shift_Del | A | - | p.L193fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_322349 | 55450256 | 55451834 | 55451618 | 55451618 | Frame_Shift_Del | T | - | p.K218fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_322349 | 55450256 | 55451834 | 55451634 | 55451634 | Frame_Shift_Del | T | - | p.T214fs |
| SKCM | TCGA-D3-A2JA-06 | exon_skip_322344 | 55438973 | 55439143 | 55439137 | 55439137 | Nonsense_Mutation | C | T | p.W911X |
| SKCM | TCGA-D3-A2JA-06 | exon_skip_322344 | 55438973 | 55439143 | 55439137 | 55439137 | Nonsense_Mutation | C | T | p.W967* |
| SKCM | TCGA-EE-A29V-06 | exon_skip_322347 exon_skip_322346 | 55441867 | 55442034 | 55441917 | 55441917 | Nonsense_Mutation | C | T | p.W920* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_322349 | 55450256 | 55451834 | 55450260 | 55450260 | Nonsense_Mutation | C | A | p.E643* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_322349 | 55450256 | 55451834 | 55450260 | 55450260 | Nonsense_Mutation | C | A | p.E643X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_322349 | 55450256 | 55451834 | 55450260 | 55450260 | Nonsense_Mutation | C | A | p.E671* |
| UCEC | TCGA-AP-A056-01 | exon_skip_322349 | 55450256 | 55451834 | 55450266 | 55450266 | Nonsense_Mutation | C | A | p.E641* |
| LUAD | TCGA-64-1679-01 | exon_skip_322349 | 55450256 | 55451834 | 55450278 | 55450278 | Nonsense_Mutation | C | A | p.E637* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_322349 | 55450256 | 55451834 | 55450446 | 55450446 | Nonsense_Mutation | C | A | p.E581X |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_322349 | 55450256 | 55451834 | 55450446 | 55450446 | Nonsense_Mutation | C | A | p.E609* |
| ESCA | TCGA-R6-A6L6-01 | exon_skip_322349 | 55450256 | 55451834 | 55450533 | 55450533 | Nonsense_Mutation | G | A | p.Q552X |
| ESCA | TCGA-R6-A6L6-01 | exon_skip_322349 | 55450256 | 55451834 | 55450533 | 55450533 | Nonsense_Mutation | G | A | p.Q580* |
| SARC | TCGA-QC-A7B5-01 | exon_skip_322349 | 55450256 | 55451834 | 55450638 | 55450638 | Nonsense_Mutation | G | A | p.Q545* |
| CHOL | TCGA-W5-AA36-01 | exon_skip_322349 | 55450256 | 55451834 | 55450665 | 55450665 | Nonsense_Mutation | C | A | p.E508* |
| CHOL | TCGA-W5-AA36-01 | exon_skip_322349 | 55450256 | 55451834 | 55450665 | 55450665 | Nonsense_Mutation | C | A | p.E508X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_322349 | 55450256 | 55451834 | 55450703 | 55450703 | Nonsense_Mutation | C | T | p.W495* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_322349 | 55450256 | 55451834 | 55450703 | 55450703 | Nonsense_Mutation | C | T | p.W495X |
| LUSC | TCGA-39-5021-01 | exon_skip_322349 | 55450256 | 55451834 | 55450740 | 55450740 | Nonsense_Mutation | C | A | p.E483* |
| LUAD | TCGA-55-8096-01 | exon_skip_322349 | 55450256 | 55451834 | 55450747 | 55450747 | Nonsense_Mutation | G | T | p.Y508* |
| STAD | TCGA-IN-7808-01 | exon_skip_322349 | 55450256 | 55451834 | 55450893 | 55450893 | Nonsense_Mutation | G | A | p.R432* |
| STAD | TCGA-IN-7808-01 | exon_skip_322349 | 55450256 | 55451834 | 55450893 | 55450893 | Nonsense_Mutation | G | A | p.R432X |
| LUSC | TCGA-18-3409-01 | exon_skip_322349 | 55450256 | 55451834 | 55451163 | 55451163 | Nonsense_Mutation | G | A | p.Q342* |
| LUAD | TCGA-97-7554-01 | exon_skip_322349 | 55450256 | 55451834 | 55451569 | 55451569 | Nonsense_Mutation | G | T | p.Y206* |
| LUAD | TCGA-97-7554-01 | exon_skip_322349 | 55450256 | 55451834 | 55451569 | 55451569 | Nonsense_Mutation | G | T | p.Y234* |
| SKCM | TCGA-ER-A194-01 | exon_skip_322349 | 55450256 | 55451834 | 55451818 | 55451818 | Nonsense_Mutation | C | T | p.W123X |
| SKCM | TCGA-ER-A194-01 | exon_skip_322349 | 55450256 | 55451834 | 55451818 | 55451818 | Nonsense_Mutation | C | T | p.W151* |
| SKCM | TCGA-EE-A3AG-06 | exon_skip_322349 | 55450256 | 55451834 | 55451819 | 55451819 | Nonsense_Mutation | C | T | p.W123* |
| SKCM | TCGA-EE-A3AG-06 | exon_skip_322349 | 55450256 | 55451834 | 55451819 | 55451819 | Nonsense_Mutation | C | T | p.W123X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| NCIH1703_LUNG | 55450256 | 55451834 | 55451187 | 55451187 | Frame_Shift_Del | G | - | p.L334fs |
| NCIH1930_LUNG | 55441867 | 55442034 | 55441984 | 55441984 | Missense_Mutation | G | T | p.A898E |
| SNU81_LARGE_INTESTINE | 55441867 | 55442034 | 55441999 | 55441999 | Missense_Mutation | C | A | p.R893I |
| MDAMB361_BREAST | 55441867 | 55442034 | 55442002 | 55442002 | Missense_Mutation | C | A | p.C892F |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55444937 | 55445107 | 55444966 | 55444966 | Missense_Mutation | A | T | p.S871R |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55444937 | 55445107 | 55445010 | 55445010 | Missense_Mutation | G | A | p.P857S |
| A673_BONE | 55444937 | 55445107 | 55445018 | 55445018 | Missense_Mutation | G | T | p.A854D |
| RERFLCFM_LUNG | 55450256 | 55451834 | 55450305 | 55450305 | Missense_Mutation | C | T | p.V628M |
| LN215_CENTRAL_NERVOUS_SYSTEM | 55450256 | 55451834 | 55450308 | 55450308 | Missense_Mutation | C | A | p.G627W |
| HT115_LARGE_INTESTINE | 55450256 | 55451834 | 55450333 | 55450333 | Missense_Mutation | C | A | p.Q618H |
| LNCAPCLONEFGC_PROSTATE | 55450256 | 55451834 | 55450355 | 55450355 | Missense_Mutation | A | G | p.L611P |
| DMS153_LUNG | 55450256 | 55451834 | 55450356 | 55450356 | Missense_Mutation | G | C | p.L611V |
| ASH3_THYROID | 55450256 | 55451834 | 55450379 | 55450379 | Missense_Mutation | T | G | p.E603A |
| SNU81_LARGE_INTESTINE | 55450256 | 55451834 | 55450488 | 55450488 | Missense_Mutation | C | T | p.D567N |
| SNGM_ENDOMETRIUM | 55450256 | 55451834 | 55450523 | 55450523 | Missense_Mutation | G | A | p.A555V |
| CW2_LARGE_INTESTINE | 55450256 | 55451834 | 55450553 | 55450553 | Missense_Mutation | T | A | p.D545V |
| HUO3N1_BONE | 55450256 | 55451834 | 55450598 | 55450598 | Missense_Mutation | C | T | p.R530K |
| CA922_UPPER_AERODIGESTIVE_TRACT | 55450256 | 55451834 | 55450671 | 55450671 | Missense_Mutation | C | T | p.G506R |
| HEC251_ENDOMETRIUM | 55450256 | 55451834 | 55450689 | 55450689 | Missense_Mutation | C | T | p.V500I |
| NCIH1304_LUNG | 55450256 | 55451834 | 55450698 | 55450698 | Missense_Mutation | T | C | p.I497V |
| HEC251_ENDOMETRIUM | 55450256 | 55451834 | 55450712 | 55450712 | Missense_Mutation | C | T | p.G492D |
| KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55450256 | 55451834 | 55450732 | 55450732 | Missense_Mutation | C | G | p.E485D |
| IPC298_SKIN | 55450256 | 55451834 | 55450805 | 55450805 | Missense_Mutation | T | A | p.K461I |
| ES7_BONE | 55450256 | 55451834 | 55450876 | 55450876 | Missense_Mutation | C | G | p.R437S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55450256 | 55451834 | 55450899 | 55450899 | Missense_Mutation | A | G | p.F430L |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55450256 | 55451834 | 55450929 | 55450929 | Missense_Mutation | C | T | p.A420T |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55450256 | 55451834 | 55450956 | 55450956 | Missense_Mutation | C | T | p.A411T |
| NCIH1703_LUNG | 55450256 | 55451834 | 55451056 | 55451056 | Missense_Mutation | C | A | p.M377I |
| HEC1A_ENDOMETRIUM | 55450256 | 55451834 | 55451078 | 55451078 | Missense_Mutation | C | G | p.C370S |
| HEC1_ENDOMETRIUM | 55450256 | 55451834 | 55451078 | 55451078 | Missense_Mutation | C | G | p.C370S |
| OSC19_UPPER_AERODIGESTIVE_TRACT | 55450256 | 55451834 | 55451078 | 55451078 | Missense_Mutation | C | G | p.C370S |
| TCYIK_CERVIX | 55450256 | 55451834 | 55451078 | 55451078 | Missense_Mutation | C | G | p.C370S |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55450256 | 55451834 | 55451096 | 55451096 | Missense_Mutation | G | A | p.A364V |
| MM386_SKIN | 55450256 | 55451834 | 55451100 | 55451100 | Missense_Mutation | G | A | p.P363S |
| GIMEN_AUTONOMIC_GANGLIA | 55450256 | 55451834 | 55451113 | 55451113 | Missense_Mutation | C | A | p.Q358H |
| GP2D_LARGE_INTESTINE | 55450256 | 55451834 | 55451114 | 55451114 | Missense_Mutation | T | C | p.Q358R |
| TEN_ENDOMETRIUM | 55450256 | 55451834 | 55451201 | 55451201 | Missense_Mutation | C | T | p.R329K |
| NCIH513_PLEURA | 55450256 | 55451834 | 55451253 | 55451253 | Missense_Mutation | G | T | p.L312M |
| NCIH2342_LUNG | 55450256 | 55451834 | 55451283 | 55451283 | Missense_Mutation | G | C | p.R302G |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55450256 | 55451834 | 55451346 | 55451346 | Missense_Mutation | C | T | p.V281I |
| OCILY132_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55450256 | 55451834 | 55451403 | 55451403 | Missense_Mutation | G | A | p.P262S |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55450256 | 55451834 | 55451420 | 55451420 | Missense_Mutation | T | A | p.D256V |
| HGC27_STOMACH | 55450256 | 55451834 | 55451516 | 55451516 | Missense_Mutation | G | A | p.A224V |
| EW13_BONE | 55450256 | 55451834 | 55451553 | 55451553 | Missense_Mutation | A | G | p.C212R |
| MRKNU1_BREAST | 55450256 | 55451834 | 55451579 | 55451579 | Missense_Mutation | G | A | p.T203M |
| NCIH1339_LUNG | 55450256 | 55451834 | 55451583 | 55451583 | Missense_Mutation | G | T | p.P202T |
| NCIH508_LARGE_INTESTINE | 55450256 | 55451834 | 55451791 | 55451791 | Missense_Mutation | C | A | p.L132F |
| KPNYS_AUTONOMIC_GANGLIA | 55450256 | 55451834 | 55451115 | 55451115 | Nonsense_Mutation | G | A | p.Q358* |
| BT12_SOFT_TISSUE | 55441867 | 55442034 | 55441868 | 55441868 | Splice_Site | G | A | p.R937W |
| 201T_LUNG | 55444937 | 55445107 | 55445107 | 55445107 | Splice_Site | C | T | p.S824S |
| HEC251_ENDOMETRIUM | 55450256 | 55451834 | 55450256 | 55450256 | Splice_Site | C | A | p.R644M |
| MEWO_SKIN | 55450256 | 55451834 | 55451834 | 55451834 | Splice_Site | C | T | p.G118D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NLRP7 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NLRP7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NLRP7 |
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RelatedDrugs for NLRP7 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NLRP7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NLRP7 | C3463897 | HYDATIDIFORM MOLE, RECURRENT, 1 | 1 | UNIPROT |
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